Joubert syndromeGene: MKS1
On current diagnostic panel and positive families within patient cohort. Evidence from literature.
Created: 15 Mar 2016, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Meckel-Gruber syndrome
Variants in this GENE are reported as part of current diagnostic practice
This proposed gene was validated and added to this panel
MKS1 was created by PennyC
MKS1 was added to Joubert syndromepanel. Sources: Expert Review